What is Congenital and Infantile Hepatic Hemangioma?
Hemangiomas are harmless blood vessel tumors that can affect infants. They can appear either on the skin or in bodily organs like the liver. In recent years, our knowledge about these tumors has significantly improved, helping to standardize how we describe and classify them. This overview will discuss two main types of hemangiomas: infantile hemangioma (IH), which includes infantile hepatic hemangioma (IHH) occurring in the liver, and congenital hemangioma (CH).
Each type has unique development patterns. For instance, IH tends to grow quickly after an infant is born but then slowly recedes. On the other hand, CH is fully grown at birth and begins to recede during early infancy. IHH can be further grouped based on how it appears, whether it’s localized, appears in multiple areas, or is spread out. Likewise, CH can be classified based on how quickly it recedes, whether rapidly (RICH), partially (PICH), or not at all (NICH).
It’s important to be aware of these conditions, as both IH and CH typically recede on their own. However, they can occasionally lead to serious complications that may require further medical intervention.
What Causes Congenital and Infantile Hepatic Hemangioma?
IH and CH are both types of blood vessel tumors that occur in babies; however, they have different causes and progress differently. The exact reasons why these tumors form aren’t completely understood.
When it comes to IH, the theory is that these abnormalities are a result of problems with the formation and growth of blood vessels. Conditions with lower oxygen levels may trigger this problem, causing an overproduction of VEG-F and other factors that contribute to the growth of blood vessels, leading to an abnormal increase in a type of cell in the fetus called endothelial cells.
On the other hand, the formation of CH is associated with certain changes in the structure of genes. Recent research has shown changes in two genes, GNAQ and GNA11, in CH. Interestingly, two types of CH, RICH and NICH, share these changes. This implies that the differences in how these tumors affect patients might be due to factors that occur after birth, or other changes on a genetic level that don’t affect the structure of the genes themselves.
Risk Factors and Frequency for Congenital and Infantile Hepatic Hemangioma
Infantile hemangiomas are the most common type of blood vessel tumor found in babies, affecting about 4 to 5% of all newborns, usually those who are female and white. Similarly, infantile hepatic hemangioma, a type of liver tumor, is also the most common of its kind in infancy. Factors that can increase the risk of these conditions include the baby having a low birth weight, being born prematurely, and having a family history of the condition.
On the other hand, hepatic hemangioma in infants is a very rare condition that is not nearly as common as infantile hemangiomas. In fact, the exact number of infants affected by it is not known, but it’s estimated to be less than 1% of all infants. In a study, it accounted for only 14% of all blood vessel tumors in babies. No specific risk factors for this condition have been reported in medical literature.
Signs and Symptoms of Congenital and Infantile Hepatic Hemangioma
Isolated hepatic hemangioma (IHH) and hepatic cavernous hemangioma (CH) are conditions that often go unnoticed because they may not produce noticeable symptoms. Often, they are found only during an ultrasound done for other reasons, like a routine prenatal check-up. If these hemangiomas are large enough, the liver may become enlarged, which can be noted during a physical exam.
Most of the time, these lesions don’t cause any symptoms. However, when symptoms do occur, they may cause heart failure, hypothyroidism, or they might compress nearby structures. In the case of CH, a slight and temporary abnormality in blood clotting may cause a rash of tiny red spots, known as a petechial rash.
When dealing with multifocal and diffuse IHH, a link has been found between skin and liver hemangiomas. The presence of multiple skin hemangiomas may suggest an underlying liver hemangioma. If a baby has 5 or more skin hemangiomas, they should get a liver ultrasound.
Testing for Congenital and Infantile Hepatic Hemangioma
Diagnosing skin-related infantile hemangioma (IH) and congenital hemangioma (CH) is often based on physical signs and clinical conditions. However, it can be more challenging to diagnose liver-related cases only through physical examination. Usually, the definitive diagnosis for IH and CH comes from a biopsy – the procedure of extracting sample cells or tissues for examination. This, however, may not always be practical due to the high potential for bleeding because these lesions are rich in blood vessels.
In such cases, the diagnosis is typically made based on the visible progression of the condition over time, unique signs found in imaging studies like ultrasound, CT, or MRI scans, and by conducting laboratory tests to make sure that the issue is not cancerous.
Typically, IH and CH are diagnosed based on their development over time. Both types of hemangiomas should be regularly monitored using ultrasound scans. IH is suspected when a lesion grows quickly right after birth until approximately eight months old, after which it starts to shrink. Whereas CH is suspected if the lesion is completely formed at birth and diminishes slowly over time.
Besides this, specific features in imaging tests can aid in accurately diagnosing either CH or IH. CH lesions typically appear as exceedingly varied or mixed in ultrasound, CT, or MRI scans, with a noticeable ring of contrast around the edges and limited contrast in the center. IH lesions may also exhibit similar characteristics. One distinguishing feature could be the presence of calcifications – the buildup of calcium in tissues. These are frequently seen in CH, but are never present in IH.
Another way to rule out certain forms of cancer like hepatoblastoma or neuroblastoma is by documenting dropping levels of a substance called serum AFP through blood tests and checking for the absence of a group of hormones called catecholamines in urine tests.
Treatment Options for Congenital and Infantile Hepatic Hemangioma
Treatment for both types of hemangioma, which are types of abnormal blood vessel growths, involves managing possible complications. Both types typically go away without any need for a treatment. However, when complications occur, treatment may be required.
In the past, corticosteroids were used to treat infantile hemangioma (IH). But today, in cases where the hemangioma is affecting the looks or sight, doctors often prefer using a medicine known as oral propranolol. Propranolol works against IH but the exact way it does that is not fully known. It’s thought to act on a particular pathway in our body that is involved in the growth of these lesions. This drug has also been shown to be effective in treating hepatic hemangiomas, which are hemangiomas of the liver.
In severe cases, where complications like high cardiac output, strained abdomen or respiratory failure arise, the hemangioma may need to be surgically removed or blocked (embolization). These interventions, though, have their own risks such as causing bleeding or liver damage, cirrhosis, and sepsis. For infants who have a widespread form of hepatic hemangioma alongside a deficiency of thyroid hormone, treatment will involve giving thyroid hormones.
With congenital hemangioma, there isn’t any medical treatment that has been shown to make the lesion regress or shrink. Corticosteroids were tried but found to be unsuccessful. Surgical removal or embolization may be needed in rare cases like, active bleeding or severe cardiac failure.
In both types of hemangiomas, monitoring through regular ultrasound scans is recommended to keep track of any regression or shrinkage. Infantile hemangiomas tend to grow at a fast rate in early infancy, reaching their maximum size by nine months, and are expected to shrink by 80% by the age of 4. Rapidly involuting congenital hemangioma (RICH), on the other hand, is expected to completely disappear by 12 to 14 months of age. There may be little or partial shrinkage in non-involuting congenital hemangioma (NICH) or partially involuting congenital hemangioma (PICH).
What else can Congenital and Infantile Hepatic Hemangioma be?
When a liver hemangioma, a noncancerous liver mass, is diagnosed, doctors also need to consider other possible conditions that could cause similar symptoms. These can include metastatic or abnormal neuroblastoma, hepatoblastoma, a noncancerous tumor called mesenchymal hamartoma, kaposiform hemangioendotheliomas which are a rare type of blood vessel tumor, embryonal sarcoma, or angiosarcoma, which is a type of cancer that starts in the lining of blood vessels.
Given that many of these conditions could become cancerous, it’s crucial for doctors to carefully evaluate and continuously monitor the development of the mass. This will aid in making an accurate diagnosis and ensuring effective treatment.
